Huntington's Chorea  

Oleh:

Malekpour, Mahdi

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 363 no. 15 (Oct. 2010), page 363:e24.
Topik: Stereotypic Choreicnormal; Rectal Sphincter Tone
Fulltext: Chorea.pdf (54.0KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2010.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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A 33-year-old woman presented with stereotypic choreic movements (see video). These uncontrollable movements, which had begun 6 years earlier, initially affected only her limbs but later extended to include her trunk and neck. The abnormal movement was absent when the patient was asleep and was exacerbated with stress. The patient also had hypotonic and dysarthric speech. Examination revealed normal mental status, normal rectal sphincter tone, and hyperactive tendon reflexes. Her sister, father, and grandmother reportedly had unspecified abnormal body movements during their fourth decade, followed by dementia and death within 10 years of the onset of symptoms. Magnetic resonance imaging revealed atrophy of the caudate nucleus (arrowhead) and putamen (arrow), with enlarged ventricles, findings suggestive of Huntington's chorea. Huntington's chorea is distinguished by the triad of dominant inheritance, choreoathetosis, and dementia. Once symptoms first appear, the disease progresses and usually results in death within 10 to 20 years. In fully developed forms of Huntington's chorea, diagnosis is straightforward, but genetic screening helps to confirm diagnosis in atypical cases and in patients with early presentation of symptoms. If the gene encoding the huntingtin protein has more than 38 repeats of the CAG trinucleotide, the disease is confirmed, as it was in this patient. Haloperidol was prescribed, and there was a slight reduction of involuntary movement. The patient continues to be seen regularly, and there has been no abatement or progression of symptoms.

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